Canonical Allele Identifier: CA448782599

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 529495
• ClinVar RCV Id: RCV000634948
• dbSNP Id: rs1064796918
• MyVariant Identifiers: chr6:g.24503617C>T (hg19) ; chr6:g.24503389C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503389C>T , CM000668.2:g.24503389C>T	GRCh38
NC_000006.11:g.24503617C>T , CM000668.1:g.24503617C>T	GRCh37
NC_000006.10:g.24611596C>T	NCBI36
NG_008161.1:g.13421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.565C>T MANE Select	ENSP00000350191.3:p.Leu189=
ENST00000672352.1:c.328C>T	ENSP00000500876.1:p.Leu110=
ENST00000672557.1:c.483C>T
ENST00000672652.1:c.486C>T
ENST00000675422.1:n.1325C>T
ENST00000348925.2:c.565C>T	ENSP00000314649.3:p.Leu189=
ENST00000357578.7:c.565C>T	ENSP00000350191.3:p.Leu189=
ENST00000491546.5:c.481C>T	ENSP00000417687.1:p.Leu161=
NM_001080.3:c.565C>T MANE Select	NP_001071.1:p.Leu189=
NM_170740.1:c.565C>T	NP_733936.1:p.Leu189=
NM_001368954.1:c.565C>T	NP_001355883.1:p.Leu189=